Scientists Achieve Next Step in ALS Stem Cell Research

Project ALS scientists in the Wichterle Lab at Columbia University have made a crucial breakthrough in stem cell research. The recent study, published in Neuron, demonstrates the ability to construct basic spinal cord circuits in a dish from stem cells. As spinal circuitry is majorly compromised in ALS, this new practice has major implications for ALS. In Wichterle’s study, stem cells are directed to recapitulate normal spinal circuitry to a remarkable degree.

“This work has direct relevance to ALS as changes in motor circuits have been reported at early stages of the disease”, said Wichterle. This advancement is also the result of a Project ALS research discovery made in 2006 in which researchers, including Wichterle, discovered how to derive human motor neurons from stem cells.

“Stem cells–plus a team of really smart scientists–just provided us with better laboratory models of ALS brain circuitry,” said Valerie Estess, director of research for Project ALS. “Better models means better drug testing means better drugs for people with ALS.”

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Mothers Committed to Curing ALS Disease

Seven Mothers Unite in New York City to Solve Medical Mystery: ALS Geneticists at Columbia University Look to Mothers and Late Daughters for Clues to Rare Juvenile ALS

Seven teenage girls from across the country, aged 17 to 22, have died from ALS, a disease primarily affecting the middle-aged. For years, their mothers consoled and supported one another digitally through a Facebook group. On May 15th, 2018, they met for the first time in person in New York City for an emotional, informative, and potentially telling visit; researchers funded by Project ALS at Columbia University collected additional DNA samples and began to identify commonalities among the young women and their families.

“ALS is billed as a disease of middle age, which is misleading,” said Valerie Estess, director of research for the non-profit Project ALS. “The participation of these brave moms–in spite of the unthinkable tragedy they’ve endured– represents a new day in ALS genetics. Thanks to them, researchers have accessed new clues about a disease affecting people of all ages.”

As part of a larger study at Columbia University, Neil Shneider, M.D. and ALS geneticist Elizabeth Harrington trace new genetics clues back to their sources, identify families at risk, and devise new approaches for slowing and even stopping ALS.  Dr. Shneider and Ms. Harrington are now processing and analyzing samples and medical histories collected from each of the seven mothers, their daughters, and families; these samples represent unprecedented and significant additions to their study.

“In these cases, ALS begins early in life and progresses rapidly,” said Dr. Shneider. “…Mutations associated with these juvenile onset forms of ALS are so toxic that they are typically not passed on to next generations…but arise anew in individuals.  As a result, these severe mutations are very rare in ALS patients overall, and identifying these seven cases provides an extraordinary opportunity to…build model systems to develop new therapies for this and related forms of ALS.”

The seven mothers, hailing from Orem, UT, Springfield, MO, Medina, OH, Randleman, NC, Orange County, CA, Storm Lake, IA, and Bloomington, MN, reached out to Project ALS in April 2018 with hopes of becoming involved with the organization to spread awareness and participate in research; their outreach was a once-in-a-lifetime opportunity for ALS research.

“Connecting with the Project ALS team and seeing their commitment and passion for discovering a cure was inspiring. I was beyond thankful to meet these amazing moms and bring awareness to the fact that ALS strikes teens and young adults. I thank Project ALS for the opportunity to participate in ALS research and to honor our courageous daughters’ memories,” said Amy Steffen, whose daughter died from ALS at age 17 in March of 2018.

Read more about their stories, featured in The Daily Mail. 

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ALS research

Project ALS Researcher Develops Groundbreaking AI Tool

Women & the Brain scholarship recipient Dr. Mackenzie Mathis of Harvard University has developed DeepLabCut, a groundbreaking AI tool that tracks movement. Women & the Brain, a Project ALS initiative, raises awareness for brain health and support for talented neuroscientists.

“There’s been a need for software like it for a long time, and I expect it to be the standard in the field for a while”, said Andres Bendesky of Columbia University.

Read more about Mackenzie’s work, featured in The Atlantic.

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Young Investigator Draft ALS

Uplifting Athletes Grants Project ALS Researcher Young Investigator Award

Uplifting Athletes will honor Project ALS-funded Columbia University researcher Emily Lowry, PhD, with one of its first five Young Investigator Awards. Uplifting Athletes, a nonprofit organization, uses sports to raise awareness and fund research for rare diseases. Their chapters are run by current student-athletes at universities across the country.

The award will be given during the Inaugural Young Investigator Draft, which will be held at the Lincoln Financial Field in Philadelphia on August 18th, 2018. Uplifting Athletes will donate a $10,000 grant to Dr. Lowry to further fund her research in ALS drug testing at the Project ALS Pre-Clinical Core at Columbia University. The event will honor accomplished and promising scientists, such as Dr. Lowry, and not only provide them with funding but with a platform to share their research and future plans.

Tickets for the event are available online at give.upliftingathletes.org/YID2018. Use the promocode “PROJECTALS2018” to receive $50 off a ticket. The event will include food, beer and wine as well as stadium and locker room tours of Lincoln Financial Field.

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ALS research developments

Project ALS-Funded Researcher Elevates Standard of Drug Testing for Neurodegenerative Diseases; Graduates with Distinction from Columbia University Master’s Program

Alejandro Garcia, who began working with Project ALS in 2009 as a research technician, and eventually lab manager of the Jenifer Estess Stem Cell Lab in New York, revolutionized the process of ALS drug screening in stem cell models of the disease. Once a laborious process that depended on limited samples from ALS patients, ALS drug screening has since become faster and more efficient using stem cell models, due to the work of Alejandro and other Project ALS researchers.

On May 16th, 2018, Alejandro graduated with a MA in Biotechnology from Columbia University, receiving a Certificate of Thesis Research Distinction—an award created in response to his thesis on the development of motor neuron reporters using CRISPR, with ALS research in mind. Moving forward, the award will be given to the most impressive thesis in the MA Biotechnology program at Columbia.

Alejandro now works as a Senior Staff Associate- Genome Editing Lead at the Columbia University Stem Cell Core Facility. Alejandro represents one of several Project ALS-funded researchers who have changed the landscape of research for the larger ALS research community and shown tremendous progress and growth under Project ALS’ eye. Alejandro has a long future of innovation and discovery ahead of him.

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ALS research intern

Project ALS Sponsors Massachusetts General Hospital Internship To Further The Field

Meet Elizabeth Adelson, a neuroscience student at Yale University whom Project ALS will sponsor this summer, along with 4 other students, for a research internship at the Neurological Clinical Research Institute at Massachusetts General Hospital.

Elizabeth currently works on the ABCD study to examine behavioral and brain development in children as a part of a 10-year national study. She is particularly interested in working with neurodegenerative disorders because of a close family member who had ALS.

Other interns and future leaders include Olivia Comeau of UMASS Amherst, Caroline Beck of University of Virginia, Emma Fleisher of Tufts University and Emma Wheeler of Boston University. All will gain experience in research and clinical aspects of ALS at Mass General. Welcome interns!

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ALS research intern

Columbia Scientist Emily Lowry Awarded Tom Kirchhoff Family Post-Doctoral Fellowship

Named in honor of former Project ALS board member and inspiration Tom Kirchhoff, the Tom Kirchhoff Family Post-Doctoral Fellowship at Project ALS is given to promising young scientists already making a difference in ALS research. This April, the fellowship has been awarded to Emily Lowry, PhD, at Columbia University. Dr. Lowry currently works within the Project ALS Pre-Clinical Core at Columbia University, alongside Drs. Hynek Wichterle and Serge Przedborski, to identify and screen for potential ALS therapies. Emily has also helped to develop a novel compound in-house that has shown promise in several ALS models.

Dr. Lowry succeeds Joseph Klim, PhD, the first recipient of the Kirchhoff Fellowship. Thanks to the Kirchhoffs, Dr. Klim, a researcher in the Harvard laboratory of Kevin Eggan, made developments in identifying new therapeutic targets for ALS, including neuroinflammation, and the ALS proteasome.

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ALS research

New ALS Gene Identified

New ALS gene is identified: Project ALS researchers play critical role in the identification of KIF5A, which gives scientists a better understanding of ALS and new therapeutic targets. Read study, published in Neuron, here.

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ALS researcher

Q. What do Huntington’s disease and ALS have in common?

A. Ai Yamamoto, Ph.D.

The acclaimed Columbia neuroscientist, a leading researcher in autophagy–or protein trafficking–in Huntington’s, has turned her talents to ALS. Project ALS recruited Dr. Yamamoto and Noah Depoure, Ph.D., a quantitative biochemist at Cornell, to characterize protein aggregation in ALS. One year in to the study, Yamamoto has identified a possible strategy for augmenting protein turnover in ALS.

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ALS disease under microscope

Study in Mice Reveals that Body’s Own Defense Against ALS Actually Drives Disease Progression at Later Stages.

Breaking news from Project ALS Autophagy Team: Study in mice reveals that the body’s own defense against ALS actually drives disease progression at later stages.

Findings underscore complexity of deadly neurological disease; lay foundation for therapies that could eventually prevent onset of ALS

Read press release

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